Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000337975 [[86302553, 86304242], [86311247, 86313051], [86337996, 86338261]] [[86311271, 86313041]]
ENST00000536947 [[86302576, 86302720], [86302796, 86304242], [86311247, 86313051], [86337996, 86338100]] [[86311271, 86313041]]
ENST00000559131 [[86303847, 86304242], [86337996, 86338149]] None
NM_022480 [[86302556, 86304242], [86311247, 86313051], [86337996, 86338189]] [[86311271, 86313041]]
Promoter
Chrom Start End Description
chr15 86338110 86338132 CAGE_peak_2_at_KLHL25_5end
chr15 86338134 86338163 CAGE_peak_1_at_KLHL25_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I085762 85762952 85763397 0.51 [{'connected_gene': 'KLHL25', 'score': 11.39}, {'connected_gene': 'ENSG00000259407', 'score': 6.57}, {'connected_gene': 'LOC101929679', 'score': 0.77}, {'connected_gene': 'MIR1276', 'score': 0.44}, {'connected_gene': 'GC15M085845', 'score': 0.23}]
chr15 GH15I085761 85761445 85762939 0.58 [{'connected_gene': 'KLHL25', 'score': 11.39}, {'connected_gene': 'ENSG00000259407', 'score': 6.23}, {'connected_gene': 'LOC101929679', 'score': 0.77}, {'connected_gene': 'MIR1276', 'score': 0.44}, {'connected_gene': 'GC15M085845', 'score': 0.23}]
chr15 GH15I085794 85793478 85796246 1.92 [{'connected_gene': 'KLHL25', 'score': 550.77}, {'connected_gene': 'LOC101929679', 'score': 12.09}, {'connected_gene': 'ENSG00000259276', 'score': 10.1}, {'connected_gene': 'ENSG00000259762', 'score': 6.62}, {'connected_gene': 'ENSG00000259407', 'score': 5.17}, {'connected_gene': 'GC15M085845', 'score': 0.34}, {'connected_gene': 'ENSG00000259195', 'score': 0.34}]
chr15 GH15I085763 85763710 85764711 0.51 [{'connected_gene': 'KLHL25', 'score': 11.75}, {'connected_gene': 'ENSG00000259407', 'score': 5.85}, {'connected_gene': 'MIR1276', 'score': 0.44}, {'connected_gene': 'LOC101929679', 'score': 0.44}, {'connected_gene': 'GC15M085845', 'score': 0.23}]
chr15 GH15I085831 85831610 85831759 0.62 [{'connected_gene': 'KLHL25', 'score': 11.48}, {'connected_gene': 'MIR1276', 'score': 10.79}, {'connected_gene': 'MIR548AP', 'score': 0.44}, {'connected_gene': 'LOC105370952', 'score': 0.44}]
chr15 GH15I085780 85780464 85780523 0.81 [{'connected_gene': 'KLHL25', 'score': 550.39}, {'connected_gene': 'ENSG00000259195', 'score': 0.44}, {'connected_gene': 'GC15M085845', 'score': 0.28}]
chr15 GH15I085793 85793331 85793459 0.31 [{'connected_gene': 'KLHL25', 'score': 550.77}, {'connected_gene': 'ENSG00000259407', 'score': 5.18}, {'connected_gene': 'GC15M085845', 'score': 0.34}, {'connected_gene': 'ENSG00000259195', 'score': 0.34}]
chr15 GH15I085800 85800590 85800801 1.04 [{'connected_gene': 'KLHL25', 'score': 0.44}, {'connected_gene': 'GC15M085845', 'score': 0.37}]
chr15 GH15I086062 86062389 86062704 0.42 [{'connected_gene': 'AGBL1', 'score': 17.92}, {'connected_gene': 'KLHL25', 'score': 1.41}, {'connected_gene': 'ENSG00000259608', 'score': 0.15}]
chr15 GH15I085477 85477083 85478200 0.96 [{'connected_gene': 'RNU6-1280P', 'score': 10.14}, {'connected_gene': 'FABP5P9', 'score': 8.6}, {'connected_gene': 'KLHL25', 'score': 2.27}, {'connected_gene': 'GC15P085515', 'score': 0.28}, {'connected_gene': 'GC15M085416', 'score': 0.21}, {'connected_gene': 'AKAP13', 'score': 0.15}]
chr15 GH15I085788 85788870 85789873 0.67 [{'connected_gene': 'RNU6-231P', 'score': 11.08}, {'connected_gene': 'ENSG00000259276', 'score': 10.4}, {'connected_gene': 'LOC101929679', 'score': 7.15}, {'connected_gene': 'ENSG00000259407', 'score': 5.19}, {'connected_gene': 'KLHL25', 'score': 0.44}, {'connected_gene': 'ENSG00000259195', 'score': 0.37}, {'connected_gene': 'GC15M085845', 'score': 0.31}]
chr15 GH15I085836 85836416 85841000 1.2 [{'connected_gene': 'LOC105370952', 'score': 550.77}, {'connected_gene': 'KLHL25', 'score': 23.75}, {'connected_gene': 'MIR1276', 'score': 11.22}, {'connected_gene': 'ENSG00000259608', 'score': 0.13}]
chr15 GH15I085754 85754145 85759661 0.49 [{'connected_gene': 'LOC101929679', 'score': 561.47}, {'connected_gene': 'ENSG00000259276', 'score': 35.05}, {'connected_gene': 'KLHL25', 'score': 11.91}, {'connected_gene': 'ENSG00000259762', 'score': 10.24}, {'connected_gene': 'ENSG00000259407', 'score': 8.97}, {'connected_gene': 'GC15M085845', 'score': 0.22}]
chr15 GH15I085777 85777015 85779181 0.59 [{'connected_gene': 'LOC101929679', 'score': 11.16}, {'connected_gene': 'ENSG00000259276', 'score': 9.97}, {'connected_gene': 'ENSG00000259407', 'score': 7.44}, {'connected_gene': 'ENSG00000259195', 'score': 0.44}, {'connected_gene': 'KLHL25', 'score': 0.37}, {'connected_gene': 'GC15M085845', 'score': 0.28}]
chr15 GH15I085824 85824893 85825656 0.49 [{'connected_gene': 'MIR548AP', 'score': 550.77}, {'connected_gene': 'KLHL25', 'score': 17.84}, {'connected_gene': 'ENSG00000259407', 'score': 8.1}, {'connected_gene': 'RNU6-231P', 'score': 0.77}]
chr15 GH15I085825 85825830 85825859 0.69 [{'connected_gene': 'MIR548AP', 'score': 550.77}, {'connected_gene': 'KLHL25', 'score': 11.53}, {'connected_gene': 'LOC105370952', 'score': 0.39}]
chr15 GH15I085768 85768560 85770750 0.62 [{'connected_gene': 'MIR1276', 'score': 550.77}, {'connected_gene': 'ENSG00000259195', 'score': 550.77}, {'connected_gene': 'ENSG00000259276', 'score': 32.21}, {'connected_gene': 'KLHL25', 'score': 11.77}, {'connected_gene': 'LOC101929679', 'score': 7.24}, {'connected_gene': 'ENSG00000259407', 'score': 6.07}, {'connected_gene': 'GC15M085845', 'score': 0.25}]
chr15 GH15I085770 85770777 85771130 0.79 [{'connected_gene': 'MIR1276', 'score': 550.77}, {'connected_gene': 'ENSG00000259195', 'score': 550.77}, {'connected_gene': 'KLHL25', 'score': 0.34}, {'connected_gene': 'GC15M085845', 'score': 0.25}]
chr15 GH15I085771 85771410 85773439 1.24 [{'connected_gene': 'MIR1276', 'score': 550.77}, {'connected_gene': 'ENSG00000259195', 'score': 550.77}, {'connected_gene': 'ENSG00000259276', 'score': 35.03}, {'connected_gene': 'LOC101929679', 'score': 14.5}, {'connected_gene': 'ENSG00000259407', 'score': 6.49}, {'connected_gene': 'KLHL25', 'score': 2.61}, {'connected_gene': 'GC15M085845', 'score': 0.26}]
chr15 GH15I085674 85674168 85676142 0.31 [{'connected_gene': 'ENSG00000259276', 'score': 41.79}, {'connected_gene': 'ENSG00000259762', 'score': 6.61}, {'connected_gene': 'ENSG00000259407', 'score': 5.29}, {'connected_gene': 'KLHL25', 'score': 4.38}, {'connected_gene': 'ENSG00000259367', 'score': 0.77}, {'connected_gene': 'ENSG00000259453', 'score': 0.31}, {'connected_gene': 'AKAP13', 'score': 0.06}]
chr15 GH15I085765 85765866 85767111 0.54 [{'connected_gene': 'ENSG00000259276', 'score': 32.6}, {'connected_gene': 'KLHL25', 'score': 11.77}, {'connected_gene': 'ENSG00000259762', 'score': 8.17}, {'connected_gene': 'MIR1276', 'score': 0.77}, {'connected_gene': 'LOC101929679', 'score': 0.44}, {'connected_gene': 'GC15M085845', 'score': 0.25}]
chr15 GH15I085666 85666476 85670137 1.5 [{'connected_gene': 'ENSG00000259276', 'score': 41.81}, {'connected_gene': 'ENSG00000259407', 'score': 8.81}, {'connected_gene': 'AKAP13', 'score': 8.26}, {'connected_gene': 'ENSG00000259762', 'score': 7.22}, {'connected_gene': 'KLHL25', 'score': 2.26}, {'connected_gene': 'ENSG00000259367', 'score': 0.77}, {'connected_gene': 'RNU6-1280P', 'score': 0.37}, {'connected_gene': 'GC15M085652', 'score': 0.37}]
chr15 GH15I085688 85688269 85695075 1.51 [{'connected_gene': 'ENSG00000259276', 'score': 41.75}, {'connected_gene': 'RNU6-1280P', 'score': 12.13}, {'connected_gene': 'ENSG00000259407', 'score': 7.22}, {'connected_gene': 'ENSG00000259762', 'score': 6.07}, {'connected_gene': 'AKAP13', 'score': 5.24}, {'connected_gene': 'KLHL25', 'score': 4.48}, {'connected_gene': 'ENSG00000259453', 'score': 0.44}, {'connected_gene': 'ENSG00000259367', 'score': 0.34}]
chr15 GH15I085533 85533202 85536600 0.99 [{'connected_gene': 'ENSG00000259276', 'score': 22.26}, {'connected_gene': 'RNU6-1280P', 'score': 10.69}, {'connected_gene': 'AKAP13', 'score': 8.17}, {'connected_gene': 'FABP5P9', 'score': 5.8}, {'connected_gene': 'ENSG00000259762', 'score': 5.35}, {'connected_gene': 'ENSG00000259407', 'score': 5.0}, {'connected_gene': 'KLHL25', 'score': 4.76}, {'connected_gene': 'PIR37091', 'score': 0.39}, {'connected_gene': 'GC15M085525', 'score': 0.39}, {'connected_gene': 'ENSG00000259375', 'score': 0.25}]
chr15 GH15I085701 85701102 85709773 1.68 [{'connected_gene': 'ENSG00000259276', 'score': 34.62}, {'connected_gene': 'RNU6-1280P', 'score': 11.93}, {'connected_gene': 'RNU6-231P', 'score': 10.45}, {'connected_gene': 'ENSG00000259407', 'score': 7.91}, {'connected_gene': 'AKAP13', 'score': 7.84}, {'connected_gene': 'ENSG00000259762', 'score': 6.36}, {'connected_gene': 'KLHL25', 'score': 5.43}, {'connected_gene': 'ENSG00000259453', 'score': 0.77}, {'connected_gene': 'ENSG00000259544', 'score': 0.34}]
chr15 GH15I085785 85785202 85787061 1.12 [{'connected_gene': 'ENSG00000259276', 'score': 18.82}, {'connected_gene': 'LOC101929679', 'score': 11.43}, {'connected_gene': 'RNU6-231P', 'score': 11.36}, {'connected_gene': 'ENSG00000259407', 'score': 5.9}, {'connected_gene': 'AKAP13', 'score': 4.22}, {'connected_gene': 'KLHL25', 'score': 0.44}, {'connected_gene': 'ENSG00000259195', 'score': 0.37}, {'connected_gene': 'GC15M085845', 'score': 0.31}]
chr15 GH15I085709 85709804 85714817 0.79 [{'connected_gene': 'ENSG00000259276', 'score': 32.9}, {'connected_gene': 'MIR1276', 'score': 11.06}, {'connected_gene': 'RNU6-1280P', 'score': 10.89}, {'connected_gene': 'ENSG00000259762', 'score': 7.17}, {'connected_gene': 'ENSG00000259407', 'score': 6.58}, {'connected_gene': 'KLHL25', 'score': 4.42}, {'connected_gene': 'AKAP13', 'score': 3.98}, {'connected_gene': 'ENSG00000259544', 'score': 0.39}, {'connected_gene': 'ENSG00000259453', 'score': 0.39}]